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2013 11
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Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Whittle EF, Chilian M, Karimiani EG, Progri H, Buhas D, Kose M, Ganetzky RD, Toosi MB, Torbati PN, Badv RS, Shelihan I, Yang H, Elloumi HZ, Lee S, Jamshidi Y, Pittman AM, Houlden H, Ignatius E, Rahman S, Maroofian R, Yoon WH, Carroll CJ. Whittle EF, et al. Genet Med. 2023 Feb;25(2):100332. doi: 10.1016/j.gim.2022.11.001. Epub 2022 Dec 15. Genet Med. 2023. PMID: 36520152 Free PMC article.
C16orf72/HAPSTR1 is a molecular rheostat in an integrated network of stress response pathways.
Amici DR, Ansel DJ, Metz KA, Smith RS, Phoumyvong CM, Gayatri S, Chamera T, Edwards SL, O'Hara BP, Srivastava S, Brockway S, Takagishi SR, Cho BK, Goo YA, Kelleher NL, Ben-Sahra I, Foltz DR, Li J, Mendillo ML. Amici DR, et al. Proc Natl Acad Sci U S A. 2022 Jul 5;119(27):e2111262119. doi: 10.1073/pnas.2111262119. Epub 2022 Jul 1. Proc Natl Acad Sci U S A. 2022. PMID: 35776542 Free PMC article.
108 results